Abstract
Are free carnitine concentrations on newborn screening (NBS) 48–72 h after birth lower in patients who develop type 1 diabetes than in controls? A retrospective case-control study of patients with type 1 diabetes was conducted. NBS results of patients from a Sydney hospital were compared against matched controls from the same hospital (1:5). Multiple imputation was performed for estimating missing data (gestational age) using gender and birthweight. Conditional logistic regression was used to control for confounding and to generate parameter estimates (α = 0.05). The Hommel approach was used for post-hoc analyses. Results are reported as medians and interquartile ranges. A total of 159 patients were eligible (80 females). Antibodies were detectable in 86. Median age at diagnosis was 8 years. Free carnitine concentrations were lower in patients than controls (25.50 µmol/L;18.98–33.61 vs. 27.26; 21.22–34.86 respectively) (p = 0.018). Immunoreactive trypsinogen was higher in this group (20.24 µg/L;16.15–29–52 vs. 18.71; 13.96–26.92) (p = 0.045), which did not persist in the post-hoc analysis. Carnitine levels are lower and immunoreactive trypsinogen might be higher, within 2–3 days of birth and years before development of type 1 diabetes as compared to controls, although the differences were well within reference ranges and provide insight into the pathogenesis into neonatal onset of type 1 diabetes development rather than use as a diagnostic tool. Given trypsinogen’s use for evaluation of new-onset type 1 diabetes, larger studies are warranted.
Highlights
Macarthur Clinical School, Western Sydney University School of Medicine, Campbelltown 2560, Australia; NSW Newborn Screening Program, Locked Bag 2012 Wentworthville, Sydney 2145, Australia; Genetic Medicine, Discipline of Paediatrics and Child Health, University of Sydney, Sydney 2006, Australia
newborn screening (NBS) results of patients with type 1 diabetes born after 1 April, 1998 of the Macarthur Diabetes and Endocrine
Conditions screened in Australia are primary congenital hypothyroidism, cystic fibrosis, galactosemia, and over 40 inborn errors of metabolism of amino acids, organic acids, and fatty acids
Summary
Macarthur Clinical School, Western Sydney University School of Medicine, Campbelltown 2560, Australia; NSW Newborn Screening Program, Locked Bag 2012 Wentworthville, Sydney 2145, Australia; Genetic Medicine, Discipline of Paediatrics and Child Health, University of Sydney, Sydney 2006, Australia. Are free carnitine concentrations on newborn screening (NBS) 48–72 h after birth lower in patients who develop type 1 diabetes than in controls? A retrospective case-control study of patients with type 1 diabetes was conducted. Free carnitine concentrations were lower in patients than controls (25.50 μmol/L;18.98–33.61 vs 27.26; 21.22–34.86 respectively) (p = 0.018). Immunoreactive trypsinogen was higher in this group (20.24 μg/L;16.15–29–52 vs 18.71; 13.96–26.92) (p = 0.045), which did not persist in the post-hoc analysis. Carnitine levels are lower and immunoreactive trypsinogen might be higher, within 2–3 days of birth and years before development of type 1 diabetes as compared to controls, the differences were well within reference ranges and provide insight into the pathogenesis into neonatal onset of type 1 diabetes development rather than use as a diagnostic tool. Introduction with regard to jurisdictional claims in Studies have demonstrated metabolic perturbations in patients who develop type
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